Mpdu1 Gene Detail

Summary

• Symbol
  Mpdu1
• Name
  mannose-P-dolichol utilization defect 1
• Synonyms
  LEC35, SL15, Supl15h

• Feature Type
  protein coding gene
• IDs
  MGI:1346040
  NCBI Gene: 24070
• Alliance
  gene page
• Transcription Start Sites
  3 TSS

Location &
Maps

• Sequence Map
  Chr11:69547523-69553468 bp, - strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 42.86 cM
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  71 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346040	protein coding gene	Chr11:69547523-69553475 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018544	protein coding gene	Chr11:70113640-70119548 (-)
A/J	MGP_AJ_G0018512	protein coding gene	Chr11:67472699-67478657 (-)
AKR/J	MGP_AKRJ_G0018481	protein coding gene	Chr11:69481492-69487435 (-)
BALB/cJ	MGP_BALBcJ_G0018484	protein coding gene	Chr11:67782434-67788380 (-)
C3H/HeJ	MGP_C3HHeJ_G0018297	protein coding gene	Chr11:69502055-69507997 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018935	protein coding gene	Chr11:72234550-72242407 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016580	protein coding gene	Chr11:64391807-64397866 (-)
CAST/EiJ	MGP_CASTEiJ_G0017852	protein coding gene	Chr11:69753475-69759415 (-)
CBA/J	MGP_CBAJ_G0018270	protein coding gene	Chr11:75467703-75476489 (-)
DBA/2J	MGP_DBA2J_G0018379	protein coding gene	Chr11:67054396-67059663 (-)
FVB/NJ	MGP_FVBNJ_G0018369	protein coding gene	Chr11:66690595-66696465 (-)
LP/J	MGP_LPJ_G0018449	protein coding gene	Chr11:70679273-70686612 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018392	protein coding gene	Chr11:76063638-76069599 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018977	protein coding gene	Chr11:69744252-69750979 (-)
PWK/PhJ	MGP_PWKPhJ_G0017626	protein coding gene	Chr11:67703709-67710084 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017416	protein coding gene	Chr11:69558509-69564589 (-)
WSB/EiJ	MGP_WSBEiJ_G0017906	protein coding gene	Chr11:69415999-69422702 (-)

Homology

• Human Ortholog
  MPDU1, mannose-P-dolichol utilization defect 1

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MPDU1, mannose-P-dolichol utilization defect 1
  
• Synonyms
  CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, SLC66A5
• Links
  HGNC:7207

  NCBI Gene ID: 9526

  neXtProt AC: NX_O75352

  UniProt: O75352

  
  
• Chr Location
  17p13.1; chr17:7583647-7588212 (+)  GRCh38.p7

---

• Alliance of Genome Resources
  Mpdu1 stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: MPDU1
• Protein SuperFamily
  MannP-dilichol_defect-1p
• Gene Tree
  Mpdu1
  

Human Diseases

• Diseases
  1 with human MPDU1 associations

				Human Disease	Mouse Models
				congenital disorder of glycosylation If IDs congenital disorder of glycosylation If       DOID:0080558 OMIM:609180 ORDO:79323

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  16 phenotype references
  

• All Mutations and Alleles
  22
• Chemically induced (other)
  1
• Gene trapped
  18
• Targeted
  3
• Genomic Mutations
  2 involving Mpdu1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  20 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  3
• GO References
  3

Expression

• Assay Results
  718
• Tissues
  7
• cDNA Data
  139
• Literature Summary
  2

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase mpdu1
  ZFIN mpdu1a, mpdu1b

Interactions

• Mpdu1 interacts with 94 markers (Mir10b, Mir15a, Mir16-1, ...) View All

Sequences &
Gene Models

• All Sequences
  65
• RefSeq
  7
• UniProt
  7
• CCDS
  CCDS24903.1

• Ensembl
  ENSMUSG00000018761 (Evidence)
• NCBI Gene
  24070

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000018761	Ensembl Gene Model | MGI Sequence Detail	5946	C57BL/6J
transcript	ENSMUST00000018905	Ensembl | MGI Sequence Detail	1321	Not Applicable
polypeptide	ENSMUSP00000018905	Ensembl | MGI Sequence Detail	247	Not Applicable

Protein
Information

• UniProt
  7 Sequences
• Protein Ontology
  PR:000010531 mannose-P-dolichol utilization defect 1 protein
  (term hierarchy)
• InterPro Domains
  IPR016817 Mannose-P-dolichol utilization defect 1 protein
  IPR006603 PQ-loop repeat

Molecular
Reagents

• All nucleic 141

  Genomic 1

  cDNA 140

  
  

  Microarray probesets 3

References

• Summaries
  All 41

  Developmental Gene Expression 2

  Gene Ontology 3

  Phenotypes 16
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:317829 Wang F, et al., Single-cell architecture and functional requirement of alternative splicing during hematopoietic stem cell formation. Sci Adv. 2022 Jan 7;8(1):eabg5369

TSS for Mpdu1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr108748	Chr11:69555192-69555208 (-)	-1,732 bp
Tssr108747	Chr11:69553451-69553462 (-)	11 bp
Tssr108746	Chr11:69553395-69553422 (-)	59 bp